Canonical Allele Identifier: CA501700531
Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1095402
ClinVar RCV Id: RCV001416298 RCV003346546
dbSNP Id: rs2144377560
MyVariant Identifiers: chr17:g.68172044C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70175903C>T , CM000679.2:g.70175903C>T GRCh38
NC_000017.10:g.68172044C>T , CM000679.1:g.68172044C>T GRCh37
NC_000017.9:g.65683639C>T NCBI36
NG_008798.1:g.11369C>T , LRG_328:g.11369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.864C>T MANE Select ENSP00000243457.2:p.Asp288=
ENST00000243457.3:c.864C>T ENSP00000243457.2:p.Asp288=
ENST00000535240.1:c.864C>T ENSP00000441848.1:p.Asp288=
NM_000891.2:c.864C>T , LRG_328t1:c.864C>T NP_000882.1:p.Asp288=
XM_011524779.1:c.864C>T XP_011523081.1:p.Asp288=
NM_000891.3:c.864C>T MANE Select NP_000882.1:p.Asp288=
Search 100 bp 5'
Search 100 bp 3'